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Volumn 24, Issue 1, 2016, Pages e1-e5

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

(17)  Arslan Kirchner, Mine a   Arbustini, Eloisa b   Boileau, Catherine c   Charron, Philippe d   Child, Anne H e   Collod Beroud, Gwenaelle f   De Backer, Julie g   De Paepe, Anne g   Dierking, Anna a   Faivre, Laurence h   Hoffjan, Sabine i   Jondeau, Guillaume c   Keyser, Britta a   Loeys, Bart j   Mayer, Karin k   Robinson, Peter N l   Schmidtke, Jörg a  


Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; BIOLOGICAL MARKER; COLLAGEN; CYTOKINE; MEMBRANE PROTEIN; TRANSCRIPTION FACTOR;

EID: 84951573589     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.225     Document Type: Article
Times cited : (24)

References (20)
  • 1
    • 77956127537 scopus 로고    scopus 로고
    • The revised Ghent nosology for the Marfan syndrome
    • Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476-485
    • (2010) J Med Genet , vol.47 , pp. 476-485
    • Loeys, B.L.1    Dietz, H.C.2    Braverman, A.C.3
  • 2
    • 84951573954 scopus 로고    scopus 로고
    • Guidelines for diagnostic next generation sequencing
    • Matthijs G, Souche E, Alders M et al. Guidelines for diagnostic next generation sequencing. Eur J Hum Genet 2016; 24: 2-5
    • (2016) Eur J Hum Genet , vol.24 , pp. 2-5
    • Matthijs, G.1    Souche, E.2    Alders, M.3
  • 3
    • 84901640794 scopus 로고    scopus 로고
    • The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
    • Lerner-Ellis JP, Aldubayan SH, Hernandez AL et al. The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). Mol Genet Metab 2014; 112: 171-176
    • (2014) Mol Genet Metab , vol.112 , pp. 171-176
    • Lerner-Ellis, J.P.1    Aldubayan, S.H.2    Hernandez, A.L.3
  • 4
    • 84891809093 scopus 로고    scopus 로고
    • ClinVar: Public archive of relationships among sequence variation and human phenotype
    • Landrum MJ, Lee JM, Riley GR et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014; 42: D980-D985
    • (2014) Nucleic Acids Res , vol.42 , pp. D980-D985
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3
  • 5
    • 84871333396 scopus 로고    scopus 로고
    • Thoracic aortic aneurysms and aortic dissections
    • In. Pagon RA, Adam MP, Ardinger HH (eds) Seattle, WA, USA: University of Washington 1993-2014
    • Milewicz DM, Regalado E. Thoracic aortic aneurysms and aortic dissections. In. Pagon RA, Adam MP, Ardinger HH (eds): Gene Reviews. Seattle, WA, USA: University of Washington, 1993-2014
    • Gene Reviews
    • Milewicz, D.M.1    Regalado, E.2
  • 6
    • 33748752789 scopus 로고    scopus 로고
    • Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns
    • Albornoz G, Coady MA, Roberts M et al. Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 2006; 82: 1400-1405
    • (2006) Ann Thorac Surg , vol.82 , pp. 1400-1405
    • Albornoz, G.1    Ma, C.2    Roberts, M.3
  • 7
  • 8
    • 84899531825 scopus 로고    scopus 로고
    • CT angiographic evaluation of genetic vascular disease: Role in detection, staging, and management of complex vascular pathologic conditions
    • Chu LC, Johnson PT, Dietz HC, Fishman EK. CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions. AJR Am J Roentgenol 2014; 202: 1120-1129
    • (2014) AJR Am J Roentgenol , vol.202 , pp. 1120-1129
    • Chu, L.C.1    Johnson, P.T.2    Dietz, H.C.3    Fishman, E.K.4
  • 9
    • 77950923685 scopus 로고    scopus 로고
    • ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/ SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease
    • A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine 2010
    • Hiratzka LF, Bakris GL, Beckman JA et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/ SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121: e266-e369
    • (2010) Circulation , vol.121 , pp. e266-e369
    • Hiratzka, L.F.1    Bakris, G.L.2    Beckman, J.A.3
  • 10
    • 84912080663 scopus 로고    scopus 로고
    • ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult 2014
    • The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC)
    • Erbel R, Aboyans V, Boileau C et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J 2014; 35: 2873-2926
    • (2014) Eur Heart J , vol.35 , pp. 2873-2926
    • Erbel, R.1    Aboyans, V.2    Boileau, C.3
  • 11
    • 84924168348 scopus 로고    scopus 로고
    • Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV)
    • Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med 2014; 16: 881-888
    • (2014) Genet Med , vol.16 , pp. 881-888
    • Pepin, M.G.1    Schwarze, U.2    Rice, K.M.3    Liu, M.4    Leistritz, D.5    Byers, P.H.6
  • 12
    • 84880623493 scopus 로고    scopus 로고
    • Aortopathies: Etiologies, genetics, differential diagnosis, prognosis and management
    • Paterick TE, Humphries JA, Ammar KA et al. Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management. Am J Med 2013; 126: 670-678
    • (2013) Am J Med , vol.126 , pp. 670-678
    • Paterick, T.E.1    Humphries, J.A.2    Ammar, K.A.3
  • 13
    • 84876342153 scopus 로고    scopus 로고
    • Management of aortic aneurysms in patients with connective tissue disease
    • Schoenhoff F, Schmidli J, Czerny M, Carrel TP. Management of aortic aneurysms in patients with connective tissue disease. J Cardiovasc Surg (Torino) 2013; 54 (1 Suppl 1): 125-134
    • (2013) J Cardiovasc Surg (Torino) , vol.54 , Issue.1 , pp. 125-134
    • Schoenhoff, F.1    Schmidli, J.2    Czerny, M.3    Carrel, T.P.4
  • 14
    • 84890433772 scopus 로고    scopus 로고
    • Heritable thoracic aortic disorders
    • Pyeritz RE. Heritable thoracic aortic disorders. Curr Opin Cardiol 2014; 29: 97-102
    • (2014) Curr Opin Cardiol , vol.29 , pp. 97-102
    • Pyeritz, R.E.1
  • 15
    • 84905592317 scopus 로고    scopus 로고
    • Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling
    • Pyeritz R, Jondeau G, Moran R et al. Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling. Genet Med 2014; 16: 641-642
    • (2014) Genet Med , vol.16 , pp. 641-642
    • Pyeritz, R.1    Jondeau, G.2    Moran, R.3
  • 17
    • 84862854537 scopus 로고    scopus 로고
    • Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease
    • Padang R, Bagnall RD, Richmond DR, Bannon PG, Semsarian C. Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J Mol Cell Cardiol 2012; 53: 277-281
    • (2012) J Mol Cell Cardiol , vol.53 , pp. 277-281
    • Padang, R.1    Bagnall, R.D.2    Richmond, D.R.3    Bannon, P.G.4    Semsarian, C.5
  • 18
    • 84920737567 scopus 로고    scopus 로고
    • MAT2A mutations predispose individuals to thoracic aortic aneurysms
    • Guo DC, Gong L, Regalado ES et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet 2015; 96: 170-177
    • (2015) Am J Hum Genet , vol.96 , pp. 170-177
    • Guo, D.C.1    Gong, L.2    Regalado, E.S.3
  • 19
    • 84919695467 scopus 로고    scopus 로고
    • Mfap5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections
    • Barbier M, Gross MS, Aubart M et al. mfap5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. Am J Hum Genet 2014; 95: 736-743
    • (2014) Am J Hum Genet , vol.95 , pp. 736-743
    • Barbier, M.1    Gross, M.S.2    Aubart, M.3
  • 20
    • 84933037220 scopus 로고    scopus 로고
    • Mutations in a TGFβ ligand, TGFB3, cause syndromic aortic aneurysms and dissections
    • Bertoli-Avella AM, Gillis E, Morisaki H et al. Mutations in a TGFβ ligand, TGFB3, cause syndromic aortic aneurysms and dissections. JACC 2015; 65: 1324-1336
    • (2015) JACC , vol.65 , pp. 1324-1336
    • Bertoli-Avella, A.M.1    Gillis, E.2    Morisaki, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.